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人类自然流产中染色体异常率的时间变化:性染色体单体性与16三体之间关联的证据

Temporal changes in chromosome abnormality rate in human spontaneous abortions: evidence for an association between sex-chromosome monosomy and trisomy 16.

作者信息

Hassold T, MacLean C

出版信息

Cytogenet Cell Genet. 1984;38(3):200-5. doi: 10.1159/000132060.

Abstract

As part of a cytogenetic survey of human spontaneous abortions, the relative frequencies of different categories of chromosome abnormalities were evaluated for possible temporal changes. Three classes of chromosome abnormalities showed significant linear trends; sex-chromosome monosomy and tetraploidy decreased over the study period, while trisomy increased. The increase in trisomy was largely attributable to trisomy 16, which showed a two-fold increase over the duration of the study. The linear increase in trisomy 16 was inversely related to sex-chromosome monosomy. This effect was restricted to women over 30 yr of age and was most pronounced among Oriental women.

摘要

作为人类自然流产细胞遗传学调查的一部分,评估了不同类别染色体异常的相对频率,以了解可能的时间变化。三类染色体异常呈现出显著的线性趋势;在研究期间,性染色体单体和四倍体减少,而三体增加。三体增加主要归因于16三体,在研究期间其增加了两倍。16三体的线性增加与性染色体单体呈负相关。这种效应仅限于30岁以上的女性,在东方女性中最为明显。

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